IL2RA c.64+14480C>T

Variant ID: 10-6089571-G-A

NM_000417.2(IL2RA):c.64+14480C>T

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Two separate effects contribute to regulatory T cell defect in systemic lupus erythematosus patients and their unaffected relatives.

Clinical And Experimental Immunology
Costa, N N; Marques, O O; Godinho, S I SI; Carvalho, C C; Leal, B B; Figueiredo, A M AM; Vasconcelos, C C; Marinho, A A; Moraes-Fontes, M F MF; Gomes da Costa, A A; Ponte, C C; Campanilho-Marques, R R; Cóias, T T; Martins, A R AR; Viana, J F JF; Lima, M M; Martins, B B; Fesel, C C
Publication Date: 2017-09

Variant appearance in text: rs791589
PubMed Link: 28542701
Variant Present in the following documents:
  • Main text
  • CEI-189-318.pdf
View BVdb publication page



Where is the causal variant? On the advantage of the family design over the case-control design in genetic association studies.

European Journal Of Human Genetics : Ejhg
Dandine-Roulland, Claire C; Perdry, Hervé H
Publication Date: 2015-10

Variant appearance in text: rs791589
PubMed Link: 25585700
Variant Present in the following documents:
  • Main text
View BVdb publication page



CpG methylation changes within the IL2RA promoter in type 1 diabetes of childhood onset.

Plos One
Belot, Marie-Pierre MP; Fradin, Delphine D; Mai, Nga N; Le Fur, Sophie S; Zélénika, Diana D; Kerr-Conte, Julie J; Pattou, François F; Lucas, Bruno B; Bougnères, Pierre P
Publication Date: 2013

Variant appearance in text: rs791589
PubMed Link: 23874506
Variant Present in the following documents:
  • Main text
  • pone.0068093.pdf
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Compensatory T-cell regulation in unaffected relatives of SLE patients, and opposite IL-2/CD25-mediated effects suggested by coreferentiality modeling.

Plos One
Fesel, Constantin C; Barreto, Marta M; Ferreira, Ricardo C RC; Costa, Nuno N; Venda, Lara L LL; Pereira, Clara C; Carvalho, Claudia C; Morães-Fontes, Maria Francisca MF; Ferreira, Carlos M CM; Vasconcelos, Carlos C; Viana, João F JF; Santos, Eugenia E; Martins, Berta B; Demengeot, Jocelyne J; Vicente, Astrid M AM
Publication Date: 2012

Variant appearance in text: rs791589
PubMed Link: 22479496
Variant Present in the following documents:
  • Main text
  • pone.0033992.pdf
View BVdb publication page



Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis.

European Journal Of Human Genetics : Ejhg
Babron, Marie-Claude MC; Perdry, Hervé H; Handel, Adam E AE; Ramagopalan, Sreeram V SV; Damotte, Vincent V; Fontaine, Bertrand B; Müller-Myhsok, Bertram B; Ebers, George C GC; Clerget-Darpoux, Françoise F
Publication Date: 2012-03

Variant appearance in text: rs791589
PubMed Link: 22085902
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited variation in immune genes and pathways and glioblastoma risk.

Carcinogenesis
Schwartzbaum, Judith A JA; Xiao, Yuanyuan Y; Liu, Yanhong Y; Tsavachidis, Spyros S; Berger, Mitchel S MS; Bondy, Melissa L ML; Chang, Jeffrey S JS; Chang, Susan M SM; Decker, Paul A PA; Ding, Bo B; Hepworth, Sarah J SJ; Houlston, Richard S RS; Hosking, Fay J FJ; Jenkins, Robert B RB; Kosel, Matthew L ML; McCoy, Lucie S LS; McKinney, Patricia A PA; Muir, Kenneth K; Patoka, Joe S JS; Prados, Michael M; Rice, Terri T; Robertson, Lindsay B LB; Schoemaker, Minouk J MJ; Shete, Sanjay S; Swerdlow, Anthony J AJ; Wiemels, Joe L JL; Wiencke, John K JK; Yang, Ping P; Wrensch, Margaret R MR
Publication Date: 2010-10

Variant appearance in text: rs791589
PubMed Link: 20668009
Variant Present in the following documents:
  • Main text
  • bgq152.pdf
View BVdb publication page



Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

Genes And Immunity
Howson, J M M JM; Walker, N M NM; Smyth, D J DJ; Todd, J A JA; ,
Publication Date: 2009-12

Variant appearance in text: rs791589
PubMed Link: 19956106
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overview of the Rapid Response data.

Genes And Immunity
Brown, W M WM; Pierce, J J JJ; Hilner, J E JE; Perdue, L H LH; Lohman, K K; Lu, L L; de Bakker, P I W PI; Irenze, K K; Ziaugra, L L; Mirel, D B DB; ,
Publication Date: 2009-12

Variant appearance in text: rs791589
PubMed Link: 19956101
Variant Present in the following documents:
  • Main text
View BVdb publication page